Product Details

SNP ID

rs200488429

Assay Type

Functionally Tested

NCBI dbSNP Submissions

7

Location

Chr.1:152759959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGTGTCCTACGTGCAGTGCGAAG[C/T]GTCACAACCTGTTCAGACTTGCTTC

Phenotype

MIM: 613260

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KPRP PubMed Links

Additional Information

For this assay, SNP(s) [rs4845480] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

KPRP

Gene Name

keratinocyte proline rich protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025231.1	470	Missense Mutation	GCG,GTG	A124V	NP_001020402.1
XM_011509571.1	470	Missense Mutation	GCG,GTG	A124V	XP_011507873.1

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